In a table in a paper titled Cerebral folate deficiency: Analytical tests and differential diagnosis, there's the following description of a mutation in a patient:
Homozygous c.195C>G; (p.Cys65Trp)
I wonder what the letter c means here.
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$\begingroup$ Well, if it is not in the paper, I’d try emailing the authors. They should know. $\endgroup$– DavidMay 18, 2019 at 19:15
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$\begingroup$ @David - thank you! I just imagined this might me a super-easy question, that's why I asked here. $\endgroup$– CopperKettleMay 18, 2019 at 19:17
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$\begingroup$ It’s not. There will be people in the field who will know, but it would be good if the authors were made aware of the narrowness of their writing (if this is, indeed, the case). $\endgroup$– DavidMay 18, 2019 at 19:21
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2 Answers
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I typed "c dna mutation" in Google and this article was the first hit:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867422/
The "c" denotes coding DNA, which given the context of the amino acid mutation having the letter "p", this makes sense.
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It means coding DNA reference sequence. Please refer the following link for more information. https://varnomen.hgvs.org/bg-material/simple/ . This should help.
